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  3. CACNA1G
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Fetal anomalies

Gene: CACNA1G

Amber List (moderate evidence)
CACNA1G (calcium voltage-gated channel subunit alpha1 G)
EnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 9 panels

2 reviews

Chris Richmond (Genetic Health Queensland)

Loss of function causes Spinocerebellar ataxia 42 (616795) and Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (618087).

Gain of function causes Infantile-Onset Syndromic Cerebellar Ataxia (no OMIM phenotype, PMID 29878067 & 31836334. These two articles describe 8 unrelated individuals: severe ID, dev delay, dysmorphism, variable seizures, hypertonia, cerebellar ataxia.
Created: 18 Dec 2019, 3:50 a.m. | Last Modified: 18 Dec 2019, 3:50 a.m.
Panel Version: 0.1425

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 42 [616795]; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087]; Infantile-Onset Syndromic Cerebellar Ataxia

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Dec 2019, 3:50 a.m.
Last Modified: 18 Dec 2019, 3:50 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1425

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Microcephaly in some.
Created: 8 Dec 2021, 8:11 a.m. | Last Modified: 8 Dec 2021, 8:11 a.m.
Panel Version: 0.1147
Four unrelated patients reported with intellectual disability as well as ataxia phenotype and heterozygous variants in this gene.
Created: 25 Nov 2019, 6:30 a.m. | Last Modified: 25 Nov 2019, 6:30 a.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087

Publications

Created: 25 Nov 2019, 6:30 a.m.
Last Modified: 25 Nov 2019, 6:30 a.m.
Panel version: 0.1147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1g has been classified as Amber List (Moderate Evidence).

8 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNA1G were set to

8 Dec 2021, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: CACNA1G was changed from to Other

8 Dec 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNA1G was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1G was added gene: CACNA1G was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087